SUCLG1

succinate-CoA ligase alpha subunit
OMIM: 611224
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FATAL INFANTILE LACTIC ACIDOSIS 308078
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FATAL INFANTILE LACTIC ACIDOSIS
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), Mitochondrial DNA Depletion Syndrome, Disorders of mitochondrial DNA maintenance and integrity, Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FATAL INFANTILE LACTIC ACIDOSIS
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of mitochondrial DNA maintenance and integrity, Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400, Mitochondrial DNA Depletion Syndrome
R-numbers: R352
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400